About Generic Disorders

The fast occurrence of disorders like Down syndrome, muscular dystrophy, and cystic fibrosis in youngsters is one of the hallmarks of the 21st century. It should be emphasized that they have intensified into a serious issue in the present day. According to the most recent data available, about one in every 800 babies is born with Down syndrome. Particularly, 350,000 youngsters in the United Kingdom and 400,000 youngsters in the United States have Down syndrome. Once more, every single year in the United States, a diagnosis of cystic fibrosis is made in about 1,000 youngsters. The global statistics also indicate that a good number of children worldwide also suffer from muscular dystrophy with the about 50,000 of children coming to the United States. Therefore, it is necessary and sufficient for the healthcare sector to try to come up with ways that can help prevent the frustrations caused by these diseases.

Down syndrome in Children

Down syndrome is a congenital disorder caused by a defect in the chromosome. It is a chromosomal abnormality which is caused by an extra genetic material of chromosome 21 which causes trisomy G or trisomy 21. Down syndrome is a life-long condition but with sufficient care children born with Down syndrome can grow up and develop into productive and happy people. Notably, Down syndrome occurs before birth when they develop an extra chromosome. A healthy child is born with 46 chromosomes while most children with Down syndrome have 47 chromosomes.

Causes of Down Syndrome in Children

Down syndrome is caused by a baby’s chromosomes. Most children born with Down syndrome possess an extra chromosome. They are therefore born with 47 chromosomes as opposed to the normal number of chromosomes which is 46. It happens when one of the chromosomes fails to separate properly, and the baby ends up with an extra partial copy. The presence of this extra chromosome changes the way the brain and the body of the child develop. However, experts have not known the exact cause of Down syndrome, but there are some risk factors that might cause Down syndrome. First, citation explains that once a woman has a baby with Down syndrome. The subsequent child is at a higher risk of developing Down syndrome. Research also shows that if Down syndrome is diagnosed in one's genes, then children born in such families are at a higher risk of suffering from Down syndrome. Also, getting pregnant when old increases the risk of bearing a child with Down syndrome.

Symptoms of Down syndrome in children

Down syndrome is characterized by key and slight structural differences. Frequently, the condition is linked with facial characteristics. During pregnancy or birth Down syndrome can be identified with amniocentesis. Therefore children with DS have oddly shaped ears, their eyes slant upward, short neck. Research also shows that they have a bulging tongue, flat facial features, small head, and ears. Such children also have poor muscle tone. Although, a child born with Down syndrome can be of a normal size, such a child will develop more slowly as compared to a child without Down syndrome.

Children with the condition may also have social and mental delays accompanied by signs such as poor judgment, short attention span, slow learning capabilities, and impulsive behavior. The citation goes ahead to explain that children who have Down syndrome may also display a number of mental complications. Some of which include, chronic constipation, sleep apnea where such children get interrupted during sleep, they also suffer from hearing loss, poor vision, congenital heart defects, slow tooth growth, and leukemia.

Types of Down Syndrome among Children

There are three types of Down syndrome in children. They are mosaicism which occurs when a child is born with an extra chromosome in some cells. Secondly, there is trisomy 21 which occurs when every cell in a child has an extra copy chromosome 21. Finally, there is translocation as another type of DS. Notably, 94% of children suffering from DS suffer from trisomy 21 with translocation and mosaicism contributing to only 6%.

Muscular Dystrophy

Muscular dystrophy refers to a group of inherited diseases which involves progressive weakening of the voluntary muscle which occurs as a result of gene mutation. It, therefore, consists of several inherited non-inflammatory muscles disorders lacking a central nerve abnormality. Muscular dystrophy interferes with the muscles having certain fiber deterioration. However, it does not provide how proof of morphological deviations.

Types of Muscular Dystrophy

Citation explains that there are about 30 forms of muscular dystrophy. Among these 30 different forms of muscular dystrophy, the major ones are, emery-Dreyfuss, distal, congenital, Duchenne, myotonic, Becker, limb-girdle, and facioscapulohumeral. Research shows that muscular dystrophy occurs among young children up to middle age. Arguably, some types of muscular dystrophy affect only male children whereas other forms only change female children.

The global statistics show that approximately 50,000 Americans are affected by muscular dystrophy, majority who are children,

Duchenne is the most common type of muscular dystrophy. It affects only male children. It is diagnosed at the age of 2 and 6. It is characterized by a decrease in the size of the muscle which may grow weaker as time progresses. When a child reaches the age of 11, the child will require a wheelchair. This type of muscular dystrophy is also characterized by deformed arms, legs, and spine. Citation also explains that it is marked by severe breathing and heart problems as the child grows. Children suffering Duchenne muscular dystrophy rarely survive. They always die in their late teens.

Becker muscular dystrophy is linked to Duchenne although it is milder compared to Duchenne muscular dystrophy. It also appears between the ages of 2 and 15. Citation explains that this type of muscular dystrophy also affects only male children. It is accompanied by heart problems. Research shows that unlike those with Duchenne, children with Becker muscular dystrophy can survive and can further live into adulthood.

Limb-girdle is most common among teens and affects both male children and female ones. It is characterized by weaknesses in the shoulder, shoulders, arms, and hips. Children suffering from limb-girdle can manage to walk but not up to late teens.

Congenital muscular dystrophy affects both genders. It is characterized by weakened muscles which are noticed at birth or within the first few months of life. Children suffering from it also suffer from joint problems caused by shrinking and shortening of muscles.it is of two types, Fukuyama, and congenital muscular dystrophy.

Symptoms of Muscular Dystrophy

The symptoms include joint stiffness, muscle weakness, recurrent chest infections, daytime somnolence; it is also characterized by shortness of breath, ankle swelling. Children with muscular dystrophy in most cases tend to collapse, faint. They might find it difficult to swallow, and other drooping eyelids. Others can suddenly die when the cardiac conduction is involved.



Prevalence of Muscular Dystrophy

Research shows that the prevalence rate of the condition differs depending on one’s race. Citation examined that the prevalence rate tended to be higher among children with Hispanic than non-Hispanic white or black children. It is noted that the prevalence rate is 1.40 per 10000 male children between the ages of 5 to late teens.

Treatment

Citation explains that there is no particular cure for any muscular dystrophy. Arguably through advancements in technology, there are a number of forms of treatment which includes medication, surgical therapy and physical therapy which are used to prevent the condition. Regarding medication, corticosteroids are used to help strengthen the muscles. Heart medications are also available in cases where the condition has destroyed the heart.

Cystic Fibrosis in Children

Cystic fibrosis is globally known to be the most common and lethal genetic condition. It is caused by various mutations on chromosome 7 which occurs in the gene called the cystic fibrosis transmembrane conductance regulator. Citation explains that a deletion of three DNA bases on this particular gene is what results in cystic fibrosis. Nonetheless, this condition is a recessive genetic disease whereby, the copies of the gene must have the mutation for the state to take place. The disease commonly affects the pancreas, lungs liver, and intestines in children

The researcher further explains that this condition is caused by a nonsense mutation which generates premature termination codons. It finally leads to premature translation termination. It is realized that when this occurs in children, their body produces thick, sticky mucus as opposed to the thin, watery kind. It is estimated that cystic fibrosis has affected approximately 26% of Americans who are all children

Symptoms of Cystic Fibrosis in Children

Children suffering from this disease have severe pancreatic insufficiency, persistent pulmonary infections and a life expectancy of fewer than three years. Its symptoms include a persistent cough which produces mucus wheezing, breathlessness, repeated lung infections, exercise intolerance, and stuffy nose. The digestive symptoms among children suffering from it include foul-smelling, poor weight gain and growth, severe constipation and intestinal blockage which mostly common in newborns.

Risk Factors

Citation examined that children are at a higher risk of getting the disease when it is in their family history, a race is also a risk factor, the disease although occurs in all races, it is prevalent among white people found in Northern European.

Complications of cystic fibrosis I children

The complications vary depending on the system. Complications of the condition in the respiratory system include growth in the nose, coughing up blood, pneumothorax, damaged airways, chronic infections, and respiratory failure. Complications are also displayed in the digestive system. In the digestive system children, experience blocked the bile duct, intestinal obstruction, distal intestinal obstruction syndrome, and nutritional deficiencies.

Diagnosis of the condition in children

Citation explains that cystic fibrosis is diagnosed in children through screening. Doctors conduct a blood test to find out the signs of the disease. The screening helps to detect whether a child has a defective CFTR gene. It also determines if a child’s pancreas and liver are correctly working. Many diagnoses are done which may include immune-reactive trypsinogen test, sweat chloride test, sputum test, chest x-ray test, and pulmonary function test

Treatment

Citation explains that there is no cure for cystic fibrosis. However, there are some medications that are used to help prevent the condition in children. First, there are mucus-thinning medications to help make the mucus thinner and less sticky. Secondly, there are nonsteroidal anti-inflammatory drugs, there also antibiotics which may be prescribed to get rid of lung infection. Research also shows that a bowel surgery may be conducted in emergency situations.

Conclusion

Overall, being healthy is every individual’s priority. However, it is only possible to enjoy opportunities that life offers when children are at peace with their physical, mental and psychological well-being. There is an essential requirement to address the causes of Down syndrome, muscular dystrophy, and cystic fibrosis. Otherwise, children will continue to suffer from the above diseases even in the years to come.



References

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